NM_020745.4(AARS2):c.1940del (p.Gly647fs)Pathogenic
Leukoencephalopathy, progressive, with ovarian failure;Combined oxidative phosphorylation defect type 8|not provided
β
β
ββ2026β Residue 647
NM_020745.4(AARS2):c.647dup (p.Cys218fs)Pathogenic
Combined oxidative phosphorylation defect type 8|Pulmonary hypoplasia|not provided
β
β
ββ2026β Residue 218
NM_020745.4(AARS2):c.1701dup (p.Gln568fs)Pathogenic
not provided
β
β
ββ2026β Residue 568
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp)Pathogenic
Combined oxidative phosphorylation defect type 8|not provided|Inborn genetic diseases|Pulmonary hypoplasia|Leukoencephalopathy, progressive, with ovarian failure|AARS2-related disorder|Mitochondrial disease
β
β
ββ2025β Residue 592
NM_020745.4(AARS2):c.2598+1G>TPathogenic
not provided|AARS2-related disorder|Adrenocortical carcinoma, hereditary
β
β
ββ2025
NM_020745.4(AARS2):c.387CTT[1] (p.Phe131del)Pathogenic
not provided|Leukoencephalopathy, progressive, with ovarian failure;Combined oxidative phosphorylation defect type 8
β
β
ββ2025β Residue 131
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys)Pathogenic
not provided|Combined oxidative phosphorylation defect type 8|Generalized muscle weakness|Leukoencephalopathy, progressive, with ovarian failure|Inborn genetic diseases|Cardiovascular phenotype
β
β
ββ2025β Residue 199
NM_020745.4(AARS2):c.1738C>T (p.Arg580Trp)Likely pathogenic
not provided
β
β
ββ2025β Residue 580
NM_020745.4(AARS2):c.1329T>A (p.Cys443Ter)Pathogenic
not provided
β
β
ββ2024β Residue 443
NM_020745.4(AARS2):c.2872C>T (p.Arg958Ter)Likely pathogenic
Inborn genetic diseases|not provided|Leukoencephalopathy, progressive, with ovarian failure;Combined oxidative phosphorylation defect type 8
β
β
ββ2024β Residue 958
NM_020745.4(AARS2):c.1561C>T (p.Arg521Ter)Pathogenic
Leukoencephalopathy, progressive, with ovarian failure|Combined oxidative phosphorylation defect type 8|not provided
β
β
ββ2024β Residue 521
NM_020745.4(AARS2):c.781del (p.Gln261fs)Pathogenic
not provided|Leukoencephalopathy, progressive, with ovarian failure
β
β
ββ2024β Residue 261
NM_020745.4(AARS2):c.2611dup (p.Thr871fs)Pathogenic
Leukoencephalopathy, progressive, with ovarian failure|not provided
β
β
ββ2024β Residue 871
NM_020745.4(AARS2):c.2146-2A>GPathogenic
Inborn genetic diseases|Combined oxidative phosphorylation defect type 8
β
β
ββ2020
NM_020745.4(AARS2):c.941del (p.Glu314fs)Pathogenic
not provided
β
βββ2025β Residue 314
NM_020745.4(AARS2):c.2730_2757dup (p.Met920fs)Pathogenic
not provided
β
βββ2025β Residue 920
NM_020745.4(AARS2):c.2607del (p.Thr871fs)Pathogenic
not provided
β
βββ2025β Residue 871
NM_020745.4(AARS2):c.2775_2776del (p.Ala926fs)Pathogenic
not provided
β
βββ2025β Residue 926
NM_020745.4(AARS2):c.367C>T (p.Arg123Ter)Pathogenic
not provided
β
βββ2025β Residue 123
NM_020745.4(AARS2):c.452T>C (p.Met151Thr)Pathogenic
not provided
β
βββ2025β Residue 151